Canonical Allele Identifier: CA2103437098

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs2034354299

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001064_77001065insA , CM000675.2:g.77001064_77001065insA	GRCh38
NC_000013.10:g.77575199_77575200insA , CM000675.1:g.77575199_77575200insA	GRCh37
NC_000013.9:g.76473200_76473201insA	NCBI36
NG_009064.1:g.14141_14142insA , LRG_692:g.14141_14142insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*95_*96insA (CLN5) MANE Select	ENSP00000366673.5:n.*95_*96insA
ENST00000616833.6:c.*614_*615insA (CLN5)	ENSP00000479547.3:n.*614_*615insA
ENST00000635838.1:c.174+4937_174+4938insA
ENST00000635905.1:n.566+4937_566+4938insA (CLN5)
ENST00000635915.1:c.1170_1171insA (CLN5)
ENST00000636183.2:c.*95_*96insA (CLN5)	ENSP00000490181.2:n.*95_*96insA
ENST00000636525.2:c.565+4937_565+4938insA (CLN5)	ENSP00000490078.2:n.565+4937_565+4938insA
ENST00000636681.1:c.*863_*864insA (CLN5)	ENSP00000489922.1:n.*863_*864insA
ENST00000636705.1:c.1008_1009insA (CLN5)
ENST00000636767.2:c.565+4937_565+4938insA (CLN5)	ENSP00000489855.2:n.565+4937_565+4938insA
ENST00000636780.2:c.*621_*622insA (CLN5)	ENSP00000489809.2:n.*621_*622insA
ENST00000637192.1:c.213+4937_213+4938insA
ENST00000637278.1:n.1498_1499insA (CLN5)
ENST00000637397.2:c.565+4937_565+4938insA (CLN5)	ENSP00000490422.2:n.565+4937_565+4938insA
ENST00000638101.1:c.169+4937_169+4938insA	ENSP00000490535.1:n.169+4937_169+4938insA
ENST00000638147.2:c.565+4937_565+4938insA	ENSP00000490953.2:n.565+4937_565+4938insA
ENST00000377453.7:c.*95_*96insA (CLN5)	ENSP00000366673.3:n.*95_*96insA
ENST00000477982.2:n.1244_1245insT (FBXL3)
ENST00000485797.2:n.174-8114_174-8113insT (FBXL3)
ENST00000616833.4:c.*95_*96insA (CLN5)	ENSP00000479547.1:n.*95_*96insA
NM_006493.2:c.*95_*96insA , LRG_692t1:c.*95_*96insA (CLN5)	NP_006484.1:n.*95_*96insA
NM_001366624.1:c.*621_*622insA (CLN5)	NP_001353553.1:n.*621_*622insA
NM_006493.3:c.*95_*96insA (CLN5)	NP_006484.2:n.*95_*96insA
XM_017020538.2:c.644-8114_644-8113insT (FBXL3)	XP_016876027.1:n.644-8114_644-8113insT
NM_001366624.2:c.*621_*622insA (CLN5)	NP_001353553.1:n.*621_*622insA
NM_006493.4:c.*95_*96insA (CLN5) MANE Select	NP_006484.2:n.*95_*96insA